Prenatal diagnosis of BACs‐on‐Beads assay in 1520 cases from Fujian Province, China
Abstract Background The aim of this study was to evaluate the application of BACs‐on‐Beads (BoBs™) assay for rapid detection of chromosomal abnormalities for prenatal diagnosis (PND). Methods A total of 1520 samples, including seven chorionic villi biopsy samples, 1328 amniotic fluid samples, and 18...
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| Format: | Article |
| Language: | English |
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Wiley
2020-10-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.1446 |
| _version_ | 1797300967257931776 |
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| author | Yan Wang Min Zhang Lingji Chen Hailong Huang Liangpu Xu |
| author_facet | Yan Wang Min Zhang Lingji Chen Hailong Huang Liangpu Xu |
| author_sort | Yan Wang |
| collection | DOAJ |
| description | Abstract Background The aim of this study was to evaluate the application of BACs‐on‐Beads (BoBs™) assay for rapid detection of chromosomal abnormalities for prenatal diagnosis (PND). Methods A total of 1520 samples, including seven chorionic villi biopsy samples, 1328 amniotic fluid samples, and 185 umbilical cord samples from pregnant women were collected to detect the chromosomal abnormalities using BoBs™ assay and karyotyping. Furthermore, abnormal specimens were verified by chromosome microarray analysis (CMA) and fluorescence in situ hybridization (FISH). Results The results demonstrated that the success rate of karyotyping and BoBs™ assay in PND was 98.09% and 100%, respectively. BoBs™ assay was concordant with karyotyping for Trisomy 21, Trisomy 18, and Trisomy 13, sex chromosomal aneuploidy, Wolf–Hirschhorn syndrome, and mosaicism. BoBs™ assay also detected Smith–Magenis syndrome, Williams–Beuren syndrome, DiGeorge syndrome, Miller–Dieker syndrome, Prader–Willi syndrome, Xp22.31 microdeletions, 22q11.2, and 17p11.2 microduplications. However, karyotyping failed to show these chromosomal abnormalities. A case of 8q21.2q23.3 duplication which was found by karyotyping was not detected by BoBs™ assay. Furthermore, all these chromosomal abnormalities were consistent with CMA and FISH verifications. According to the reports, we estimated that the detection rates of karyotyping, BoBs™, and CMA in the present study were 4.28%, 4.93%, and 5%, respectively, which is consistent with the results of a previous study. The respective costs for the three methods were about $135–145, $270–290, and $540–580. Conclusion BoBs™ assay is considered a reliable, rapid test for use in PND. A variety of comprehensive technological applications can complement each other in PND, in order to maximize the diagnosis rate and reduce the occurrence of birth defects. |
| first_indexed | 2024-03-07T23:15:38Z |
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| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:15:38Z |
| publishDate | 2020-10-01 |
| publisher | Wiley |
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| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-0aed83d62e7540b2ad4b7bc14ccd462f2024-02-21T12:03:03ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-10-01810n/an/a10.1002/mgg3.1446Prenatal diagnosis of BACs‐on‐Beads assay in 1520 cases from Fujian Province, ChinaYan Wang0Min Zhang1Lingji Chen2Hailong Huang3Liangpu Xu4Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University Fuzhou ChinaFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University Fuzhou ChinaFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University Fuzhou ChinaFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University Fuzhou ChinaFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University Fuzhou ChinaAbstract Background The aim of this study was to evaluate the application of BACs‐on‐Beads (BoBs™) assay for rapid detection of chromosomal abnormalities for prenatal diagnosis (PND). Methods A total of 1520 samples, including seven chorionic villi biopsy samples, 1328 amniotic fluid samples, and 185 umbilical cord samples from pregnant women were collected to detect the chromosomal abnormalities using BoBs™ assay and karyotyping. Furthermore, abnormal specimens were verified by chromosome microarray analysis (CMA) and fluorescence in situ hybridization (FISH). Results The results demonstrated that the success rate of karyotyping and BoBs™ assay in PND was 98.09% and 100%, respectively. BoBs™ assay was concordant with karyotyping for Trisomy 21, Trisomy 18, and Trisomy 13, sex chromosomal aneuploidy, Wolf–Hirschhorn syndrome, and mosaicism. BoBs™ assay also detected Smith–Magenis syndrome, Williams–Beuren syndrome, DiGeorge syndrome, Miller–Dieker syndrome, Prader–Willi syndrome, Xp22.31 microdeletions, 22q11.2, and 17p11.2 microduplications. However, karyotyping failed to show these chromosomal abnormalities. A case of 8q21.2q23.3 duplication which was found by karyotyping was not detected by BoBs™ assay. Furthermore, all these chromosomal abnormalities were consistent with CMA and FISH verifications. According to the reports, we estimated that the detection rates of karyotyping, BoBs™, and CMA in the present study were 4.28%, 4.93%, and 5%, respectively, which is consistent with the results of a previous study. The respective costs for the three methods were about $135–145, $270–290, and $540–580. Conclusion BoBs™ assay is considered a reliable, rapid test for use in PND. A variety of comprehensive technological applications can complement each other in PND, in order to maximize the diagnosis rate and reduce the occurrence of birth defects.https://doi.org/10.1002/mgg3.1446BoBs™CMAFISHkaryotypingmicrodeletionsmicroduplications |
| spellingShingle | Yan Wang Min Zhang Lingji Chen Hailong Huang Liangpu Xu Prenatal diagnosis of BACs‐on‐Beads assay in 1520 cases from Fujian Province, China Molecular Genetics & Genomic Medicine BoBs™ CMA FISH karyotyping microdeletions microduplications |
| title | Prenatal diagnosis of BACs‐on‐Beads assay in 1520 cases from Fujian Province, China |
| title_full | Prenatal diagnosis of BACs‐on‐Beads assay in 1520 cases from Fujian Province, China |
| title_fullStr | Prenatal diagnosis of BACs‐on‐Beads assay in 1520 cases from Fujian Province, China |
| title_full_unstemmed | Prenatal diagnosis of BACs‐on‐Beads assay in 1520 cases from Fujian Province, China |
| title_short | Prenatal diagnosis of BACs‐on‐Beads assay in 1520 cases from Fujian Province, China |
| title_sort | prenatal diagnosis of bacs on beads assay in 1520 cases from fujian province china |
| topic | BoBs™ CMA FISH karyotyping microdeletions microduplications |
| url | https://doi.org/10.1002/mgg3.1446 |
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